Incidental Mutation 'R2201:Reep1'
ID 238653
Institutional Source Beutler Lab
Gene Symbol Reep1
Ensembl Gene ENSMUSG00000052852
Gene Name receptor accessory protein 1
Synonyms D6Ertd253e
MMRRC Submission 040203-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2201 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 71684545-71787694 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 71750278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 97 (S97P)
Ref Sequence ENSEMBL: ENSMUSP00000148341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000121469] [ENSMUST00000212631] [ENSMUST00000212792]
AlphaFold Q8BGH4
Predicted Effect probably damaging
Transcript: ENSMUST00000121469
AA Change: S97P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112662
Gene: ENSMUSG00000052852
AA Change: S97P

DomainStartEndE-ValueType
Pfam:TB2_DP1_HVA22 7 95 1.1e-35 PFAM
low complexity region 128 137 N/A INTRINSIC
low complexity region 160 180 N/A INTRINSIC
low complexity region 188 199 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000212631
Predicted Effect probably damaging
Transcript: ENSMUST00000212792
AA Change: S97P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.2562 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that functions to enhance the cell surface expression of odorant receptors. Mutations in this gene cause spastic paraplegia autosomal dominant type 31, a neurodegenerative disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit spastic paraplegia in aged mice with reduced ER complexity in cortical motor neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A T 6: 128,524,268 (GRCm39) N1121K probably null Het
Actr10 A G 12: 71,006,795 (GRCm39) N351D probably damaging Het
Adcy7 G A 8: 89,044,606 (GRCm39) A500T probably damaging Het
Ankrd35 T C 3: 96,586,564 (GRCm39) I80T possibly damaging Het
Arap2 G A 5: 62,864,028 (GRCm39) T532I probably damaging Het
Bag3 AAAGG AAAGGAAGG 7: 128,147,493 (GRCm39) probably null Het
Cc2d2a T C 5: 43,841,375 (GRCm39) probably benign Het
Cep85l A T 10: 53,224,827 (GRCm39) M254K probably benign Het
Clic4 A G 4: 134,950,850 (GRCm39) S114P probably damaging Het
Ctsj T C 13: 61,150,363 (GRCm39) Y213C probably damaging Het
Ddx28 A G 8: 106,737,206 (GRCm39) V284A probably damaging Het
Dnase2b T A 3: 146,290,443 (GRCm39) D176V probably damaging Het
Dsg2 T A 18: 20,729,111 (GRCm39) N663K probably damaging Het
Dst T A 1: 34,235,002 (GRCm39) S3694T possibly damaging Het
Emilin1 T C 5: 31,073,036 (GRCm39) S158P probably benign Het
Eng T C 2: 32,563,752 (GRCm39) probably benign Het
Entrep2 T A 7: 64,409,141 (GRCm39) M418L probably benign Het
Fdxr C A 11: 115,161,208 (GRCm39) V223L probably benign Het
Fhip1b T C 7: 105,037,398 (GRCm39) N395S probably damaging Het
Frem2 T A 3: 53,423,994 (GRCm39) M3148L probably benign Het
Hip1 A T 5: 135,460,584 (GRCm39) D114E probably benign Het
Itga9 T C 9: 118,706,183 (GRCm39) probably benign Het
Kcnt2 T A 1: 140,437,179 (GRCm39) N487K probably damaging Het
Krt6a A G 15: 101,601,606 (GRCm39) F172L probably benign Het
Megf8 C T 7: 25,040,170 (GRCm39) R1034W probably damaging Het
Muc6 C T 7: 141,236,075 (GRCm39) D451N probably damaging Het
Myo5a A G 9: 75,125,225 (GRCm39) T1838A possibly damaging Het
N4bp2l2 A T 5: 150,585,073 (GRCm39) D302E probably damaging Het
Nbeal2 T A 9: 110,459,318 (GRCm39) I1930F probably benign Het
Nhsl3 A G 4: 129,116,432 (GRCm39) V732A probably benign Het
Npas4 A T 19: 5,037,392 (GRCm39) Y301N probably benign Het
Nt5m A G 11: 59,766,741 (GRCm39) K211E probably benign Het
Pfn4 A G 12: 4,824,382 (GRCm39) probably null Het
Pfpl A C 19: 12,407,843 (GRCm39) D698A probably benign Het
Pias1 G T 9: 62,859,137 (GRCm39) H124N possibly damaging Het
Pja2 A T 17: 64,618,162 (GRCm39) probably benign Het
Polr3e T C 7: 120,531,465 (GRCm39) Y185H probably benign Het
Pomc T C 12: 4,010,275 (GRCm39) L172S probably benign Het
Rapgef4 A G 2: 71,875,533 (GRCm39) T129A probably damaging Het
Rttn T A 18: 89,029,067 (GRCm39) I595N possibly damaging Het
Sap30 T C 8: 57,938,506 (GRCm39) probably null Het
Slc1a7 T C 4: 107,850,203 (GRCm39) Y105H probably damaging Het
Slc5a5 C T 8: 71,345,102 (GRCm39) M68I probably damaging Het
Stab2 T A 10: 86,776,503 (GRCm39) Y791F probably benign Het
Tdrd1 C A 19: 56,847,094 (GRCm39) H912N probably benign Het
Tdrd1 C A 19: 56,847,093 (GRCm39) S911R probably benign Het
Tgm7 A T 2: 120,929,062 (GRCm39) F278Y probably damaging Het
Tln2 T C 9: 67,283,039 (GRCm39) T310A probably damaging Het
Tmem256 T C 11: 69,730,271 (GRCm39) I93T probably benign Het
Trpm2 G A 10: 77,756,305 (GRCm39) Q1172* probably null Het
Ttll8 A G 15: 88,818,156 (GRCm39) V173A possibly damaging Het
Ubr5 T C 15: 38,002,543 (GRCm39) S1497G possibly damaging Het
Ubr7 G A 12: 102,727,764 (GRCm39) probably null Het
Vmn1r37 T A 6: 66,708,878 (GRCm39) M1K probably null Het
Vmn2r14 A G 5: 109,366,698 (GRCm39) probably null Het
Vmn2r72 T C 7: 85,387,444 (GRCm39) I707V probably benign Het
Vps8 A G 16: 21,395,507 (GRCm39) R1266G probably damaging Het
Wdr87-ps T A 7: 29,235,950 (GRCm39) noncoding transcript Het
Zfhx4 A G 3: 5,307,349 (GRCm39) N192D probably damaging Het
Zfp638 G C 6: 83,906,500 (GRCm39) D222H probably damaging Het
Zscan29 A C 2: 120,999,883 (GRCm39) V106G probably damaging Het
Other mutations in Reep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01705:Reep1 APN 6 71,750,272 (GRCm39) missense probably damaging 1.00
IGL03057:Reep1 APN 6 71,784,765 (GRCm39) splice site probably benign
R1596:Reep1 UTSW 6 71,733,421 (GRCm39) critical splice donor site probably null
R1899:Reep1 UTSW 6 71,757,781 (GRCm39) missense probably benign 0.32
R2252:Reep1 UTSW 6 71,733,426 (GRCm39) splice site probably null
R3787:Reep1 UTSW 6 71,772,199 (GRCm39) missense probably damaging 0.98
R4760:Reep1 UTSW 6 71,684,985 (GRCm39) missense possibly damaging 0.67
R5657:Reep1 UTSW 6 71,738,358 (GRCm39) missense possibly damaging 0.89
R6619:Reep1 UTSW 6 71,784,826 (GRCm39) utr 3 prime probably benign
R6659:Reep1 UTSW 6 71,750,179 (GRCm39) missense probably damaging 1.00
R7080:Reep1 UTSW 6 71,757,749 (GRCm39) missense possibly damaging 0.81
R7299:Reep1 UTSW 6 71,738,373 (GRCm39) missense probably benign 0.02
R7730:Reep1 UTSW 6 71,757,725 (GRCm39) missense possibly damaging 0.64
R9333:Reep1 UTSW 6 71,772,198 (GRCm39) missense probably damaging 0.99
R9486:Reep1 UTSW 6 71,684,969 (GRCm39) missense probably benign 0.00
RF019:Reep1 UTSW 6 71,684,953 (GRCm39) start codon destroyed probably null
RF023:Reep1 UTSW 6 71,684,952 (GRCm39) start codon destroyed probably null
RF029:Reep1 UTSW 6 71,684,950 (GRCm39) start codon destroyed probably null
RF032:Reep1 UTSW 6 71,684,952 (GRCm39) start codon destroyed probably null
RF042:Reep1 UTSW 6 71,684,950 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- CATGCCAACCCCGGTCTT -3'
(R):5'- GCGTGCATGCACCCATAC -3'

Sequencing Primer
(F):5'- AGTGCTGTGGAGAACCTA -3'
(R):5'- CTGGGAATTGAACTCAGGACCTC -3'
Posted On 2014-10-02